Frese, Jenny

[["dc.bibliographiccitation.firstpage","131"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Pediatric Nephrology"],["dc.bibliographiccitation.lastpage","137"],["dc.bibliographiccitation.volume","32"],["dc.contributor.author","Stock, Johanna"],["dc.contributor.author","Kuenanz, Johannes"],["dc.contributor.author","Glonke, Niklas"],["dc.contributor.author","Sonntag, Joseph"],["dc.contributor.author","Frese, Jenny"],["dc.contributor.author","Toenshoff, Burkhard"],["dc.contributor.author","Hoecker, Britta"],["dc.contributor.author","Hoppe, Bernd"],["dc.contributor.author","Feldkoetter, Markus"],["dc.contributor.author","Pape, Lars"],["dc.contributor.author","Lerch, Christian"],["dc.contributor.author","Wygoda, Simone"],["dc.contributor.author","Weber, Manfred"],["dc.contributor.author","Mueller, Gerhard-Anton"],["dc.contributor.author","Gross, Oliver"],["dc.date.accessioned","2018-11-07T10:29:37Z"],["dc.date.available","2018-11-07T10:29:37Z"],["dc.date.issued","2017"],["dc.description.abstract","Patients with autosomal or X-linked Alport syndrome (AS) with heterozygous mutations in type IV collagen genes have a 1-20 % risk of progressing to end-stage renal disease during their lifetime. We evaluated the long-term renal outcome of patients at risk of progressive disease (chronic kidney disease stages 1-4) with/without nephroprotective therapy. This was a prospective, non-interventional, observational study which included data from a 4-year follow-up of AS patients with heterozygous mutations whose datasets had been included in an analysis of the 2010 database of the European Alport Registry. Using Kaplan-Meier estimates and logrank tests, we prospectively analyzed the updated datasets of 52 of these patients and 13 new datasets (patients added to the Registry after 2011). The effects of therapy, extrarenal symptoms and inheritance pattern on renal outcome were analyzed. The mean prospective follow-up was 46 +/- 10 months, and the mean time on therapy was 8.4 +/- 4.4 (median 7; range 2-18) years. The time from the appearance of the first symptom to diagnosis was 8.1 +/- 14.2 (range 0-52) years. At the time of starting therapy, 5.4 % of patients had an estimated glomerular filtration rate of < 60 ml/min, 67.6 % had proteinuria and 27.0 % had microalbuminuria. Therapeutic strategies included angiotensin-converting enzymer inhibitors (97.1 %), angiotensin receptor antagonists (1 patient), dual therapy (11.8 %) and statins (8.8 %). Among patients included in the prospective dataset, prevented the need for dialysis. Among new patients, no patient at risk for renal failure progressed to the next disease stage after 4 years follow-up; three patients even regressed to a lower stage during therapy. Treatment with blockers of the renin-angiotensin-aldosterone system prevents progressive renal failure in AS patients with heterozygous mutations in the genes causing AS. Considerable numbers of aging AS patients on dialysis may have heterozygous mutations in these genes (present in 1 % of total population) as underlying disease. Hence, greater alertness towards timely diagnosis and therapy has the potential to prevent progressive renal failure in most-if not all-AS patients with heterozygous mutations in the causal genes."],["dc.identifier.doi","10.1007/s00467-016-3452-z"],["dc.identifier.isi","000388976400015"],["dc.identifier.pmid","27402170"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/43676"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Springer"],["dc.relation.issn","1432-198X"],["dc.relation.issn","0931-041X"],["dc.title","Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","519"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","International Journal of Molecular Sciences"],["dc.bibliographiccitation.volume","20"],["dc.contributor.affiliation","Frese, Jenny; \t\t \r\n\t\t Clinic of Nephrology and Rheumatology, University Medical Center Goettingen, 37075 Goettingen, Germany, jenny.frese@dpdhl.com"],["dc.contributor.affiliation","Kettwig, Matthias; \t\t \r\n\t\t Clinic of Pediatrics and Adolescent Medicine, University Medical Center Goettingen, 37075 Goettingen, Germany, matthias.kettwig@med.uni-goettingen.de"],["dc.contributor.affiliation","Zappel, Hildegard; \t\t \r\n\t\t Clinic of Pediatrics and Adolescent Medicine, University Medical Center Goettingen, 37075 Goettingen, Germany, hzappel@med.uni-goettingen.de"],["dc.contributor.affiliation","Hofer, Johannes; \t\t \r\n\t\t Department of Pediatrics, Pediatrics I, Innsbruck Medical University, 6020 Innsbruck, Austria, Johannes.Hofer@i-med.ac.at"],["dc.contributor.affiliation","Gröne, Hermann-Josef; \t\t \r\n\t\t Department of Cellular and Molecular Pathology, German Cancer Research Center, 69120 Heidelberg, Germany, h.-j.groene@dkfz-heidelberg.de"],["dc.contributor.affiliation","Nagel, Mato; \t\t \r\n\t\t Center for Nephrology and Metabolic Disorders, Molecular Diagnostics, 02943 Weißwasser, Germany, nagel@moldiag.de"],["dc.contributor.affiliation","Sunder-Plassmann, Gere; \t\t \r\n\t\t Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, 1090 Vienna, Austria, Gere.Sunder-Plassmann@meduniwien.ac.at"],["dc.contributor.affiliation","Kain, Renate; \t\t \r\n\t\t Department of Pathology, Medical University of Vienna, 1090 Vienna, Austria, renate.kain@meduniwien.ac.at"],["dc.contributor.affiliation","Neuweiler, Jörg; \t\t \r\n\t\t Institute of Pathology, Kantonsspital, 9007 St. Gallen, Switzerland, joerg.neuweiler@kssg.ch"],["dc.contributor.affiliation","Gross, Oliver; \t\t \r\n\t\t Clinic of Nephrology and Rheumatology, University Medical Center Goettingen, 37075 Goettingen, Germany, gross.oliver@med.uni-goettingen.de"],["dc.contributor.author","Frese, Jenny"],["dc.contributor.author","Kettwig, Matthias"],["dc.contributor.author","Zappel, Hildegard"],["dc.contributor.author","Hofer, Johannes"],["dc.contributor.author","Gröne, Hermann-Josef"],["dc.contributor.author","Nagel, Mato"],["dc.contributor.author","Sunder-Plassmann, Gere"],["dc.contributor.author","Kain, Renate"],["dc.contributor.author","Neuweiler, Jörg"],["dc.contributor.author","Gross, Oliver"],["dc.date.accessioned","2019-07-09T11:50:02Z"],["dc.date.available","2019-07-09T11:50:02Z"],["dc.date.issued","2019"],["dc.date.updated","2022-09-05T07:17:34Z"],["dc.description.abstract","Kidney injury due to focal segmental glomerulosclerosis (FSGS) is the most common primary glomerular disorder causing end-stage renal disease. Homozygous mutations in either glomerular basement membrane or slit diaphragm genes cause early renal failure. Heterozygous carriers develop renal symptoms late, if at all. In contrast to mutations in slit diaphragm genes, hetero- or hemizygous mutations in the X-chromosomal COL4A5 Alport gene have not yet been recognized as a major cause of kidney injury by FSGS. We identified cases of FSGS that were unexpectedly diagnosed: In addition to mutations in the X-chromosomal COL4A5 type IV collagen gene, nephrin and podocin polymorphisms aggravated kidney damage, leading to FSGS with ruptures of the basement membrane in a toddler and early renal failure in heterozygous girls. The results of our case series study suggest a synergistic role for genes encoding basement membrane and slit diaphragm proteins as a cause of kidney injury due to FSGS. Our results demonstrate that the molecular genetics of different players in the glomerular filtration barrier can be used to evaluate causes of kidney injury. Given the high frequency of X-chromosomal carriers of Alport genes, the analysis of genes involved in the organization of podocyte architecture, the glomerular basement membrane, and the slit diaphragm will further improve our understanding of the pathogenesis of FSGS and guide prognosis of and therapy for hereditary glomerular kidney diseases."],["dc.identifier.doi","10.3390/ijms20030519"],["dc.identifier.pmid","30691124"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/15841"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/59686"],["dc.language.iso","en"],["dc.notes.intern","Merged from goescholar"],["dc.relation.eissn","1422-0067"],["dc.relation.issn","1422-0067"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.subject.ddc","610"],["dc.title","Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis."],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","13"],["dc.bibliographiccitation.journal","Matrix Biology"],["dc.bibliographiccitation.lastpage","21"],["dc.bibliographiccitation.volume","34"],["dc.contributor.author","Rubel, Diana"],["dc.contributor.author","Frese, Jenny"],["dc.contributor.author","Martin, Maria"],["dc.contributor.author","Leibnitz, Alexander"],["dc.contributor.author","Girgert, Rainer"],["dc.contributor.author","Miosge, Nicolai"],["dc.contributor.author","Eckes, Beate"],["dc.contributor.author","Müller, Gerhard-Anton"],["dc.contributor.author","Gross, Oliver"],["dc.date.accessioned","2021-06-01T10:49:46Z"],["dc.date.available","2021-06-01T10:49:46Z"],["dc.date.issued","2014"],["dc.identifier.doi","10.1016/j.matbio.2014.01.006"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/86405"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-425"],["dc.relation.issn","0945-053X"],["dc.title","Collagen receptors integrin alpha2beta1 and discoidin domain receptor 1 regulate maturation of the glomerular basement membrane and loss of integrin alpha2beta1 delays kidney fibrosis in COL4A3 knockout mice"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]